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Results for "LRRC4C"

Variant Events: 95

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
LRRC4C     AU2951302chr11:
41386118-41386118
GAintronicDe novo--Yuen2017 G
LRRC4C     2-1356-003chr11:
41645656-41645656
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     2-1169-004chr11:
40503725-40503725
TCintronicDe novo--Yuen2017 G
LRRC4C     2-1163-003chr11:
40996645-40996645
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     2-1295-003chr11:
41167964-41167964
GAintronicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     5-0077-003chr11:
40778090-40778090
AATintronicDe novo--Yuen2017 G
LRRC4C     AU031404chr11:
40912814-40912832
AAACAACAACAACAACAACAAACAACAACAACAACintronicDe novo--Yuen2017 G
LRRC4C     1-0321-004chr11:
41554199-41554199
GAintergenicDe novo--Yuen2017 G
LRRC4C     2-1264-003chr11:
40359768-40359768
TGintronicDe novo--Yuen2017 G
LRRC4C     AU3052302chr11:
41471546-41471546
TCintronicDe novo--Yuen2017 G
LRRC4C     7-0174-003chr11:
41476215-41476215
ATintronicDe novo--Yuen2017 G
LRRC4C     5-0040-003chr11:
41554199-41554199
GAintergenicDe novo--Yuen2017 G
LRRC4C     2-1283-003chr11:
40973675-40973675
GCintronicDe novo--Yuen2017 G
LRRC4C     5-0065-003chr11:
41081695-41081695
GAintronicDe novo--Yuen2017 G
LRRC4C     2-1318-004chr11:
40629368-40629368
CTintronicDe novo--Yuen2017 G
LRRC4C     AU3721302chr11:
40158710-40158713
GCACGCintronicDe novo--Yuen2017 G
LRRC4C     AU4462302chr11:
40689419-40689419
GAintronicDe novo--Yuen2017 G
LRRC4C     2-1138-003chr11:
40370542-40370542
TCintronicDe novo--Yuen2017 G
LRRC4C     AU1933302chr11:
41703624-41703624
GAintergenicDe novo--Yuen2017 G
LRRC4C     1-0344-003chr11:
40612849-40612849
TCintronicDe novo--Yuen2017 G
LRRC4C     1-0161-003chr11:
41667506-41667506
CAintergenicDe novo--Yuen2017 G
LRRC4C     AU073006chr11:
40884916-40884916
CTintronicDe novo--Yuen2017 G
LRRC4C     1-0522-003chr11:
41205805-41205805
GAintronicDe novo--Yuen2017 G
LRRC4C     2-1148-004chr11:
41239707-41239707
TGintronicDe novo--Yuen2017 G
LRRC4C     1-0126-003chr11:
40210924-40210924
TCintronicDe novo--Yuen2017 G
LRRC4C     AU028305chr11:
40200695-40200695
CTintronicDe novo--Yuen2017 G
LRRC4C     AU3124304chr11:
40831253-40831253
TAintronicDe novo--Yuen2017 G
LRRC4C     AU3695303chr11:
40974829-40974829
CAintronicDe novo--Yuen2017 G
LRRC4C     1-0591-003chr11:
40971118-40971119
TCTintronicDe novo--Yuen2017 G
LRRC4C     11089.p1chr11:
40719486-40719486
CTintronicDe novo--Turner2016 G
LRRC4C     1-0019-004chr11:
40401748-40401748
TGintronicDe novo--Yuen2017 G
LRRC4C     12568.p1chr11:
40818226-40818226
TGintronicDe novo--Turner2016 G
LRRC4C     2-1277-004chr11:
40882190-40882190
TCintronicDe novo--Yuen2017 G
LRRC4C     7-0102-003chr11:
40268829-40268829
CTintronicDe novo--Yuen2017 G
LRRC4C     AU024607chr11:
41179364-41179364
CTintronicDe novo--Yuen2017 G
LRRC4C     1-0244-003chr11:
41698336-41698336
AGintergenicDe novo--Yuen2016 G
LRRC4C     1-0304-003chr11:
40313938-40313938
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     1-0448-003chr11:
40171244-40171244
TGintronicDe novo--Yuen2017 G
LRRC4C     2-0323-004chr11:
40537208-40537208
CTintronicDe novo--Yuen2017 G
LRRC4C     AU3728301chr11:
40493220-40493220
CTintronicDe novo--Yuen2017 G
LRRC4C     1-0572-003chr11:
40187971-40187971
GTintronicDe novo--Yuen2017 G
LRRC4C     2-1561-003chr11:
40955415-40955415
CTintronicDe novo--Yuen2017 G
LRRC4C     AU3721301chr11:
40524020-40524020
GAintronicDe novo--Yuen2017 G
LRRC4C     1-0382-004chr11:
40705370-40705370
AGintronicDe novo--Yuen2017 G
LRRC4C     5-0054-003chr11:
40897046-40897046
GAintronicDe novo--Yuen2017 G
LRRC4C     2-0210-005chr11:
41566492-41566492
GCintergenicDe novo--Yuen2017 G
LRRC4C     AU3636301chr11:
41557055-41557055
CTintergenicDe novo--Yuen2017 G
LRRC4C     AU3862305chr11:
40549638-40549638
TCintronicDe novo--Yuen2017 G
LRRC4C     1-0231-004chr11:
41222163-41222163
AGintronicDe novo--Yuen2017 G
LRRC4C     AU4429301chr11:
40599508-40599508
CGintronicDe novo--Yuen2017 G
LRRC4C     G01-GEA-87-HIchr11:
40137376-40137376
CTexonicDe novononsynonymous SNVNM_020929
NM_001258419
c.G467A
c.G467A
p.R156Q
p.R156Q
20.3-Lim2017 E
Satterstrom2020 E
LRRC4C     2-0285-003chr11:
40818904-40818904
TAintronicDe novo--Yuen2017 G
LRRC4C     1-0372-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
LRRC4C     5-0125-003chr11:
40216910-40216910
CAintronicDe novo--Yuen2017 G
LRRC4C     AU1223301chr11:
40982362-40982362
CTintronicDe novo--Yuen2017 G
LRRC4C     AU3918302chr11:
41642468-41642468
TCintergenicDe novo--Yuen2017 G
LRRC4C     AU2123302chr11:
41205959-41205959
AGintronicDe novo--Yuen2017 G
LRRC4C     2-1129-003chr11:
40811981-40811981
AGintronicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     1-0595-005chr11:
41265682-41265682
CTintronicDe novo--Yuen2017 G
LRRC4C     80001100820chr11:
40137355-40137355
ATexonicDe novononsynonymous SNVNM_020929
NM_001258419
c.T488A
c.T488A
p.I163N
p.I163N
16.39-Satterstrom2020 E
LRRC4C     2-1431-003chr11:
40909319-40909319
ACintronicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     2-1116-003chr11:
41006554-41006554
CAintronicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     AU3808305chr11:
40467274-40467274
ATintronicDe novo--Yuen2017 G
LRRC4C     1-0206-005chr11:
40942114-40942114
CAintronicDe novo--Yuen2017 G
LRRC4C     2-0225-004chr11:
40586655-40586655
CTintronicDe novo--Yuen2017 G
LRRC4C     AU003405chr11:
41081348-41081348
GAintronicDe novo--Yuen2017 G
LRRC4C     2-1741-003chr11:
41578291-41578291
TCintergenicDe novo--Yuen2017 G
LRRC4C     7-0082-003chr11:
41233703-41233703
GAintronicDe novo--Yuen2017 G
LRRC4C     AU2787302chr11:
40517362-40517363
TGTintronicDe novo--Yuen2017 G
LRRC4C     A15chr11:
41294801-41294801
GAintronicDe novo--Wu2018 G
LRRC4C     1-0041-003chr11:
41660226-41660226
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     AU1668302chr11:
40503093-40503093
CTintronicDe novo--Yuen2017 G
LRRC4C     AU3399302chr11:
41178158-41178158
AGintronicDe novo--Yuen2017 G
LRRC4C     AU4315302chr11:
41402563-41402563
AGintronicDe novo--Yuen2017 G
LRRC4C     5-0110-003chr11:
41113188-41113190
AGGAGintronicDe novo--Yuen2017 G
LRRC4C     1-0570-003chr11:
41070961-41070961
CTintronicDe novo--Yuen2017 G
LRRC4C     1-0464-003chr11:
40468002-40468002
CTintronicDe novo--Yuen2016 G
Yuen2017 G
LRRC4C     1-0161-004chr11:
41667506-41667506
CAintergenicDe novo--Yuen2017 G
LRRC4C     AU4145303chr11:
41431369-41431375
CAAAAAACAAAAAintronicDe novo--Yuen2017 G
LRRC4C     AU3787303chr11:
41250171-41250171
GAintronicDe novo--Yuen2017 G
LRRC4C     2-1592-003chr11:
41313953-41313953
CTintronicDe novo--Yuen2017 G
LRRC4C     ASC_CA_74_Achr11:
40136051-40136051
AGexonicDe novononsynonymous SNVNM_020929
NM_001258419
c.T1792C
c.T1792C
p.Y598H
p.Y598H
9.786-Satterstrom2020 E
LRRC4C     AU3889305chr11:
40670859-40670859
TAintronicDe novo--Yuen2017 G
LRRC4C     1-0554-003chr11:
41119174-41119174
CAintronicDe novo--Yuen2017 G
LRRC4C     2-0129-005chr11:
40230093-40230093
CTintronicDe novo--Yuen2017 G
LRRC4C     1-0841-003chr11:
41369999-41369999
CTintronicDe novo--Yuen2017 G
LRRC4C     AU072505chr11:
40745785-40745785
ACintronicDe novo--Yuen2017 G
LRRC4C     2-1297-004chr11:
40439059-40439059
TAintronicDe novo--Yuen2017 G
LRRC4C     Mahjani2021:20chr11:
40137355-40137355
ATexonicnonsynonymous SNVNM_020929
NM_001258419
c.T488A
c.T488A
p.I163N
p.I163N
16.39-Mahjani2021 E
LRRC4C     1-0486-003chr11:
40416333-40416333
TCintronicDe novo--Yuen2017 G
LRRC4C     1-0606-003chr11:
41068682-41068682
ATintronicDe novo--Yuen2017 G
LRRC4C     AU3051303chr11:
40140280-40140280
TCintronicDe novo--Yuen2017 G
LRRC4C     2-1215-003chr11:
40950135-40950135
TCintronicDe novo--Yuen2017 G
LRRC4C     AU3729301chr11:
40851613-40851619
GAAAAAAGAAAAAAAintronicDe novo--Yuen2017 G
LRRC4C     AU2951303chr11:
41386118-41386118
GAintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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